Full data view for gene OXCT1

Information The variants shown are described using the NM_000436.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.112C>T r.(?) p.(Arg38Cys) Unknown - likely benign g.41862819G>A g.41862717G>A OXCT1(NM_000436.3):c.112C>T (p.(Arg38Cys)) - OXCT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.142G>A r.(?) p.(Glu48Lys) Unknown - VUS g.41862789C>T g.41862687C>T OXCT1(NM_000436.3):c.142G>A (p.(Glu48Lys)) - OXCT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.173C>T r.(?) p.(Thr58Met) Parent #1 - benign g.41862758G>A g.41862656G>A - - OXCT1_000009 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75134564 Germline - 4/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
-?/. - c.564+4A>G r.spl? p.? Unknown - likely benign g.41850128T>C g.41850026T>C OXCT1(NM_000436.3):c.564+4A>G (p.?) - OXCT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.733-3T>C r.spl? p.? Unknown - likely benign g.41807543A>G g.41807441A>G OXCT1(NM_000436.3):c.733-3T>C - OXCT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1100-6_1100-5del r.spl? p.? Unknown - likely benign g.41794869_41794870del g.41794767_41794768del OXCT1(NM_000436.3):c.1100-6_1100-5delGT - OXCT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1193T>C r.(?) p.(Met398Thr) Unknown - VUS g.41794160A>G g.41794058A>G OXCT1(NM_000436.3):c.1193T>C (p.M398T) - OXCT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1193T>C r.(?) p.(Met398Thr) Unknown - VUS g.41794160A>G g.41794058A>G OXCT1(NM_000436.3):c.1193T>C (p.M398T) - OXCT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13i c.1248+5G>A r.1100_1248del p.Lys368Glufs*34 Both (homozygous) - pathogenic g.41794100C>T g.41793998C>T - - OXCT1_000001 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - SCOTD - - - M no United States Mexico - 0 - - 1 Toshiyuki Fukao
+/. - c.1402C>T r.(?) p.(Arg468Cys) Both (homozygous) ACMG pathogenic g.41749646G>A g.41749544G>A - - OXCT1_000003 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - SCOTD - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
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